MVK

This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

本基因编码过氧化物酶体中的异戊二烯酸激酶。异戊二烯酸是异戊二烯和甾醇合成的关键中间体，而异戊二烯酸激酶则是这一合成途径中的关键早期酶。该基因突变导致的异戊二烯酸激酶缺乏，会引起异戊二烯酸尿症，这是一种以精神运动迟滞、生长发育不良、肝脾肿大、贫血及反复发热危机为特征的疾病。此基因的缺陷亦能引发高免疫球蛋白D血症和周期性发热综合征，后者是一种以发热伴随淋巴结肿大、关节炎、胃肠道不适及皮肤疹为特征的反复发作性疾病。该基因通过选择性剪接产生多种转录变体。[由RefSeq提供，2014年7月]